thr777 No Further a Mystery
thr777 No Further a Mystery
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The impact of your variant on RNA or protein purpose, according to experimental proof from submitters.
This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons afflicted with GAA-associated ailments.
There is not any purposeful proof in ClinVar for this variation. Should you have created useful knowledge for this variation, remember to take into account distributing that info to ClinVar.
This column consists of more information supporting the classification, together with citations, the comment on classification, and detailed proof supplied as observations of the variant because of the submitter.
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There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account submitting that details to ClinVar.
The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was past up-to-date in ClinVar.
These citations are recognized by LitVar utilizing the rs number, so They might involve citations for thr777 more than one variant at this site. Make sure you critique the LitVar outcomes meticulously for your variant of curiosity. Report last updated May possibly 19, 2024
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Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.
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